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immunodeficiency 31B - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency 31B

MONDO:0013427

Also known as:susceptibility to viral and mycobacterial infectionsSTAT1 deficiencyimmunodeficiency type 31B

Overview

GeneticsAutosomal recessive · STAT1 (chr 2)

Clinical Presentation

Features include: Recurrent mycobacterial infections, Recurrent viral infections, and Herpes simplex encephalitis.

Organ System	Phenotype Count	Example Features
Blood and immune system	2	Recurrent mycobacterial infections, Recurrent viral infections

Explore clinical features

Genetic Landscape

STAT1 function has not been fully characterized.

Immunodeficiency 31B is caused by mutations in the STAT1 gene on chromosome 2.

Diagnosis

Genetic testing for STAT1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for immunodeficiency 31B has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for immunodeficiency 31B.

87 publications have been identified in PubMed for immunodeficiency 31B. Research spans Basic Science / Preclinical (37%), Case Report / Case Series (20%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Laboratory research	32	37%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 5:45 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613796

Orphanet

European rare disease database

Orphanet:391311

GARD

Genetic and Rare Diseases Info Center

GARD:17612

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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immunodeficiency 31B

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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